Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders
Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes. Case. An 11-year-old-boy presented with respiratory insufficiency and a rapi...
Na minha lista:
| Principais autores: | , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hacettepe University Institute of Child Health
2021-04-01
|
| coleção: | The Turkish Journal of Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://turkjpediatr.org/article/view/302 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|